Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening


Karaca M., ÖZGÜL R. K., Ünal Ö., Yücel-Yılmaz D., KILIÇ M., Hişmi B., ...Daha Fazla

European Journal of Pediatrics, cilt.174, sa.8, ss.1077-1084, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 174 Sayı: 8
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1007/s00431-015-2509-5
  • Dergi Adı: European Journal of Pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1077-1084
  • Anahtar Kelimeler: BD, Biotinidase deficiency, BTD, Gene coding for BTD, Newborn screening, Turkish population, SYMPTOMATIC CHILDREN, UNITED-STATES, COMMON-CAUSE, DEFICIENCY, IDENTIFICATION, LOCALIZATION, CONSERVATION, EXPRESSION, DIAGNOSIS, DISEASE
  • Marmara Üniversitesi Adresli: Hayır